Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer

Jose Buleje*, Maria Guevara-Fujita, Oscar Acosta, Francia D.P. Huaman, Pierina Danos, Alexis Murillo, Joseph A. Pinto, Jhajaira M. Araujo, Alfredo Aguilar, Jaime Ponce, Carlos Vigil, Carlos Castaneda, Gabriela Calderon, Henry L. Gomez, Ricardo Fujita

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Background: Breast cancer is one of the most prevalent malignancies in the world. In Peru, breast cancer is the second cause of death among women. Five to ten percent of patients present a high genetic predisposition due to BRCA1 and BRCA2 germline mutations. Methods: We performed a comprehensive analysis of BRCA1 and BRCA2 genes by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to detect large rearrangements in patients from 18 families, which met the criteria for hereditary breast cancer. Results: In this series, we found four pathogenic mutations, three previously reported (BRCA1: c.302-1G>C and c.815_824dup10; BRCA2: c.5946delT) and a duplication of adenines in exon 15 in BRCA1 gene (c.4647_4648dupAA, ClinVar SCV000256598.1). We also found two exonic and four intronic variants of unknown significance and 28 polymorphic variants. Conclusion: This is the first report to determine the spectrum of mutations in the BRCA1/BRCA2 genes in Peruvian families selected by clinical and genetic criteria. The alteration rate in BRCA1/BRCA2 with proven pathogenic mutation was 22.2% (4 out 18) and this finding could be influenced by the reduced sample size or clinical criteria. In addition, we found three known BRCA1/BRCA2 mutations and a BRCA1 c.4647_4648dupAA as a novel pathogenic mutation.

Original languageEnglish (US)
Pages (from-to)481-494
Number of pages14
JournalMolecular Genetics and Genomic Medicine
Issue number5
StatePublished - Sep 2017
Externally publishedYes


  • BRCA1 gene
  • BRCA2 gene
  • hereditary breast and ovarian cancer syndrome
  • molecular analysis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Molecular Biology


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